F312V (p.Phe312Val) variant of FH (P07954)
F312V (p.Phe312Val) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary leiomyomatosis and renal cell cancer; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
F312V (p.Phe312Val) variant details
- p.Phe312Val
- rs863224000
- ClinGen CA345438379
- ClinVar RCV002551211
- ClinVar RCV004699136
- Likely pathogenic
- Hereditary leiomyomatosis and renal cell cancer; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Hereditary leiomyomatosis and renal cell cancer; not provided)
- EBI: Pathogenic (in FMRD)
- UniProt: Pathogenic (in FMRD)
- Structural context available
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)